ArticleBritish journal of cancer2012
Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.
Article in British journal of cancer, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 114 citations in OpenAlex.
- Therapeutic Vulnerabilities of the Key Genetic Drivers in Leiomyosarcoma.Medical sciences (Basel, Switzerland) · 2026Review
- UTERINE FIBROIDS.Physiological reviews · 2025Review
- Therapeutic targeting of the tryptophan-kynurenine-aryl hydrocarbon receptor pathway with apigenin in MED12-mutant leiomyoma cells.Cancer gene therapy · 2025Article
- Comprehensive mutational profiling identifies new driver events in cutaneous leiomyosarcoma.The British journal of dermatology · 2025Article
- Advancement in Multi-omics approaches for Uterine Sarcoma.Biomarker research · 2024Review
- Engineered MED12 mutations drive leiomyoma-like transcriptional and metabolic programs by altering the 3D genome compartmentalization.Nature communications · 2023Article
- Engineered MED12 mutations drive uterine fibroid-like transcriptional and metabolic programs by altering the 3D genome compartmentalization.Research square · 2023Article
- Comprehensive Review of Uterine Fibroids: Developmental Origin, Pathogenesis, and Treatment.Endocrine reviews · 2022Review
- Colorectal leiomyosarcoma withJournal of gastrointestinal oncology · 2022Article
- Interrogating the Genomic Landscape of Uterine Leiomyosarcoma: A Potential for Patient Benefit.Cancers · 2022Review
- The role of mediator subunit 12 in tumorigenesis and cancer therapeutics.Oncology letters · 2022Review
- Genome-wide screens identify specific drivers of mutantProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms.Journal of human genetics · 2021Review
- Integrated mutational landscape analysis of uterine leiomyosarcomas.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- Endometriosis and Uterine Fibroids (Leiomyomata): Comorbidity, Risks and Implications.Frontiers in reproductive health · 2021Review
- A putative competing endogenous RNA network in cisplatin-resistant lung adenocarcinoma cells identifying potentially rewarding research targets.Oncology letters · 2020Article
- The emerging role of mediator complex subunit 12 in tumorigenesis and response to chemotherapeutics.Cancer · 2020Review
- Introduction of Somatic Mutation in MED12 Induces Wnt4/β-Catenin and Disrupts Autophagy in Human Uterine Myometrial Cell.Reproductive sciences (Thousand Oaks, Calif.) · 2020Article
- Liquid Biopsy as a Tool for Differentiation of Leiomyomas and Sarcomas of Corpus Uteri.International journal of molecular sciences · 2019Review
- Comparative Gene Expression Profiles in Parathyroid Adenoma and Normal Parathyroid Tissue.Journal of clinical medicine · 2019Article
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Authors and funding
19 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundMediator complex participates in transcriptional regulation by connecting regulatory DNA sequences to the RNA polymerase II initiation complex. Recently, we discovered through exome sequencing that as many as 70% of uterine leiomyomas harbour specific mutations in exon 2 of mediator complex subunit 12 (MED12). In this work, we examined the role of MED12 exon 2 mutations in other tumour types.
methodsThe frequency of MED12 exon 2 mutations was analysed in altogether 1158 tumours by direct sequencing. The tumour spectrum included mesenchymal tumours (extrauterine leiomyomas, endometrial polyps, lipomas, uterine leiomyosarcomas, other sarcomas, gastro-intestinal stromal tumours), hormone-dependent tumours (breast and ovarian cancers), haematological malignancies (acute myeloid leukaemias, acute lymphoid leukaemias, myeloproliferative neoplasms), and tumours associated with abnormal Wnt-signalling (colorectal cancers (CRC)).
resultsFive somatic alterations were observed: three in uterine leiomyosarcomas (3/41, 7%; Gly44Ser, Ala38_Leu39ins7, Glu35_Leu36delinsVal), and two in CRC (2/392, 0.5%; Gly44Cys, Ala67Val).
conclusionSomatic MED12 exon 2 mutations were observed in uterine leiomyosarcomas, suggesting that a subgroup of these malignant tumours may develop from a leiomyoma precursor. Mutations in CRC samples indicate that MED12 may, albeit rarely, contribute to CRC tumorigenesis.
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